Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.P391H
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GRK1

NM_002929.3:p.P391H

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Grk1 Missense Mutations in Type II Oguchi Disease: A Literature Review.

Margo TE et al.

Annals of Biomedical Research, 2024

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Wei X et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

New variants and in silico analyses in GRK1 associated Oguchi disease.

Poulter JA et al.

Human Mutation, 2021

Structures of rhodopsin kinase in different ligand states reveal key elements involved in G protein-coupled receptor kinase activation.

Singh P et al.

The Journal of Biological Chemistry, 2008

Hereditary retinal disease.

Goodwin P

Current Opinion in Ophthalmology, 2008

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.

Oishi A et al.

American Journal of Ophthalmology, 2007

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

Hayashi T et al.

Ophthalmology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."